ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.380C>G (p.Ser127Cys) (rs730881999)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205404 SCV000259447 uncertain significance Li-Fraumeni syndrome 2015-07-16 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 127 of the TP53 protein (p.Ser127Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant has not been reported as a germline variant in affected individuals, and it is not present in population databases. Experimental studies have shown that this missense change results in reduction of TP53 transcriptional activation activity (The IARC TP53 database, http://p53.iarc.fr/). In summary, this is a novel missense change that reportedly impacts protein function. However, it has not been reported in affected patients and thus its association with disease is uncertain. It has been classified as a Variant of Uncertain Significance.

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